GATAD2B

GATAD2B is a human protein-coding gene that provides instructions for making the GATAD2B protein, a regulatory subunit of the Nucleosome Remodeling and Deacetylation (NuRD) complex. The NuRD complex combines chromatin remodeling and histone deacetylation to regulate gene expression during development and cellular differentiation. GATAD2B interacts with core NuRD components such as CHD3/CHD4, MTA proteins, and RBBP4/7, contributing to complex assembly and transcriptional repression.

In humans, pathogenic variants in GATAD2B cause GATAD2B-associated neurodevelopmental disorder (GAND), a dominantly inherited or de novo neurodevelopmental condition. The phenotype is variable but commonly includes developmental delay or intellectual disability, hypotonia in infancy, feeding difficulties, and impaired speech and language. Additional features can include epilepsy, autistic features, dysmorphic facial features, and, in some cases, congenital anomalies. Brain imaging can reveal nonspecific findings. The condition is typically caused by heterozygous loss-of-function or missense variants; most reported cases arise de novo. Population data generally show intolerance of GATAD2B to loss-of-function variation, consistent with haploinsufficiency as a disease mechanism.

Research into GATAD2B and the NuRD complex contributes to understanding how chromatin remodeling regulates neurodevelopment. As part of NuRD, GATAD2B helps link chromatin state to transcriptional programs that guide neural development and neuronal function.